Normosmic congenital hypogonadotropic hypogonadism (ncHH) is caused by the deficient production, secretion, or action of gonadotropin-releasing hormone (GnRH). Its typical clinical manifestation is delayed puberty and azoospermia. Homozygous and compound heterozygous mutations in the GNRHR gene (4q13.2) are the most frequent genetic causes of ncHH.
Genetics of ncHH: from a peculiar inheritance of a novel GNRHR mutation to a comprehensive review of the literature / Cioppi, F; Riera-Escamilla, A; Manilall, A; Guarducci, E; Todisco, T; Corona, G; Colombo, F; Bonomi, M; Flanagan, C A; Krausz, C. - In: ANDROLOGY. - ISSN 2047-2927. - STAMPA. - (2018), pp. 88-101. [10.1111/andr.12563]
Genetics of ncHH: from a peculiar inheritance of a novel GNRHR mutation to a comprehensive review of the literature
CIOPPI, FRANCESCA;Riera-Escamilla, A;Guarducci, E;TODISCO, TOMMASO;Corona, G;Bonomi, M;Krausz, C
2018
Abstract
Normosmic congenital hypogonadotropic hypogonadism (ncHH) is caused by the deficient production, secretion, or action of gonadotropin-releasing hormone (GnRH). Its typical clinical manifestation is delayed puberty and azoospermia. Homozygous and compound heterozygous mutations in the GNRHR gene (4q13.2) are the most frequent genetic causes of ncHH.
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